diff --git a/environment.yml b/environment.yml
index ed0f0cfe9caf08a99b27443c5951828bec6263a0..eceee147bb0b29868596a34ebeae4165a6052d86 100644
--- a/environment.yml
+++ b/environment.yml
@@ -8,4 +8,4 @@ channels:
dependencies:
- coreutils=8.25 # gives us cross-platform md5sum
- nextflow=21.04.0
-# - bcbio-nextgen=1.2.8
\ No newline at end of file
+# - bcbio-nextgen=1.2.8
diff --git a/pipeline/inputs.nf b/pipeline/inputs.nf
index cf4094f9a6e3dc0547c8cec7039673db77d6b7c4..3a0263f1b2927506a891654bac1c32e6bd5e8fc4 100644
--- a/pipeline/inputs.nf
+++ b/pipeline/inputs.nf
@@ -86,7 +86,6 @@ workflow read_inputs {
ch_individuals_by_family = ch_ped_file_info
.join(ch_samplesheet_info)
.map({[it[1], it]})
- .groupTuple()
emit:
ch_samplesheet_info
diff --git a/pipeline/main.nf b/pipeline/main.nf
new file mode 100644
index 0000000000000000000000000000000000000000..9ee2571b22e71d7ea53aa3f5847637add3748bda
--- /dev/null
+++ b/pipeline/main.nf
@@ -0,0 +1,100 @@
+nextflow.enable.dsl = 2
+
+include {read_inputs} from './inputs.nf'
+include {validation} from './validation.nf'
+
+
+process merge_fastqs {
+ publishDir "outputs/individuals/$indv_id/merged_fastqs", mode: 'copy'
+
+ input:
+ tuple(val(indv_id), val(r1), val(r2))
+
+ output:
+ tuple(
+ val(indv_id),
+ path("${indv_id}_merged_r1.fastq.gz"),
+ path("${indv_id}_merged_r2.fastq.gz")
+ )
+
+ script:
+ // todo: pigz if gzip becomes a bottleneck
+ """
+ cat ${r1.join(' ')} | gzip -c > ${indv_id}_merged_r1.fastq.gz &
+ cat ${r2.join(' ')} | gzip -c > ${indv_id}_merged_r2.fastq.gz
+ """
+}
+
+process write_bcbio_csv {
+ publishDir "outputs/families/$family_id", mode: 'copy'
+
+ input:
+ tuple(val(family_id), val(individual_info))
+
+ output:
+ path("${family_id}.csv")
+
+ script:
+ """
+ #!/usr/bin/env python
+
+ individual_info = '$individual_info'
+ lines = individual_info.lstrip('[').rstrip(']').split('], [')
+
+ with open('${family_id}.csv', 'w') as f:
+ f.write('samplename,description,batch,sex,phenotype,variant_regions\\n')
+ for l in lines:
+ l = l.lstrip('[').rstrip(']').split(', ')
+ f.write(','.join(l))
+ """
+}
+
+process run_bcbio {
+ input:
+ path(bcbio_config)
+
+ script:
+ """
+ bcbio_nextgen.py $bcbio_config -n 16 -t local
+ """
+
+}
+
+workflow prepare_bcbio_config {
+ /*
+ - For each individual, merge all R1 and R2 fastqs
+ - For each family:
+ - Read the relevant information from the samplesheet, ped files and merged fastqs
+ - Write a BCBio config file
+ - Run BCBio on it
+ */
+
+ take:
+ ch_samplesheet_info
+ ch_individuals_by_family
+
+ main:
+ ch_merged_fastqs = merge_fastqs(ch_samplesheet_info)
+ ch_merged_data = ch_individuals_by_family.map(
+ { k, v -> v }
+ )
+ .join(ch_merged_fastqs)
+ .map(
+ { sample_id, family_id, father, mother, sex, phenotype, r1s, r2s, merged_r1, merged_r2 ->
+ [family_id, [sample_id, father, mother, sex, phenotype, merged_r1, merged_r2]]
+ }).groupTuple()
+
+ ch_bcbio_config = write_bcbio_csv(ch_merged_data)
+ run_bcbio(ch_bcbio_config)
+}
+
+
+workflow {
+ read_inputs()
+ ch_samplesheet_info = read_inputs.out[0]
+ ch_ped_file_info = read_inputs.out[1]
+ ch_individuals_by_family = read_inputs.out[2]
+
+ validation(ch_samplesheet_info)
+ prepare_bcbio_config(ch_samplesheet_info, ch_individuals_by_family)
+}
diff --git a/pipeline/validation.nf b/pipeline/validation.nf
index 81b7c2107074585512e15cd4c4e4c075745c4062..965008f4053c3f32b76da5ca90d9420a03ee48d6 100644
--- a/pipeline/validation.nf
+++ b/pipeline/validation.nf
@@ -47,37 +47,38 @@ process raise_errors {
exit 1, "MD5 mismatches found"
}
-workflow {
+workflow validation {
/*
Take a parsed samplesheet, flatten it and parse into a channel of observed vs.
expected checksums. Calls check_errors above to raise an exception upon any
mismatches.
*/
- read_inputs()
- ch_samplesheet_info = read_inputs.out[0]
+ take:
+ ch_samplesheet_info
- ch_fastqs = ch_samplesheet_info
- .map(
- { indv, r1, r2 ->
- [r1, r2]
- }
- ).flatten()
- .map({file(it)})
-
- ch_md5_files = ch_fastqs.map(
- { fastq -> fastq.getParent().getParent() + '/md5sums.txt' }
- )
-
- ch_obs = observed_md5(ch_fastqs)
- ch_exp = expected_md5(ch_fastqs, ch_md5_files)
+ main:
+ ch_fastqs = ch_samplesheet_info
+ .map(
+ { indv, r1, r2 ->
+ [r1, r2]
+ }
+ ).flatten()
+ .map({file(it)})
+
+ ch_md5_files = ch_fastqs.map(
+ { fastq -> fastq.getParent().getParent() + '/md5sums.txt' }
+ )
+
+ ch_obs = observed_md5(ch_fastqs)
+ ch_exp = expected_md5(ch_fastqs, ch_md5_files)
- ch_mismatches = ch_obs.concat(ch_exp)
- .map({fastq, md5 -> [fastq, md5.strip()]})
- .groupTuple()
- .filter({it[1][0] != it[1][1]})
- .collect({"${it[0]}: ${it[1][0]} != ${it[1][1]}"})
-
- ch_mismatches.view({"\nChecksum mismatches:\n${it.join('\n')}"})
- raise_errors(ch_mismatches)
+ ch_mismatches = ch_obs.concat(ch_exp)
+ .map({fastq, md5 -> [fastq, md5.strip()]})
+ .groupTuple()
+ .filter({it[1][0] != it[1][1]})
+ .collect({"${it[0]}: ${it[1][0]} != ${it[1][1]}"})
+
+ ch_mismatches.view({"\nChecksum mismatches:\n${it.join('\n')}"})
+ raise_errors(ch_mismatches)
}
diff --git a/tests/run_tests.sh b/tests/run_tests.sh
index 59a53a4b069d685fed86a35b4edcdbc6d3e2c48d..bc83de57c9d3ef2693c5bd1a473fd1473678c8b8 100755
--- a/tests/run_tests.sh
+++ b/tests/run_tests.sh
@@ -1,37 +1,32 @@
#!/bin/bash
-function run_nextflow {
- # Run NextFlow in the background, wait for termination and return an exit status based on
- # error occurrence. We have to do this because NextFlow doesn't like CI environments with
- # detached stdin/stdout.
-
- nextflow run -bg $*
- nextflow_pid=$(cat .nextflow.pid)
-
- while kill -0 $nextflow_pid 2> /dev/null
- do
- sleep 1
- done
- rm .nextflow.pid
-
- # janky, but couldn't find any other way of getting the exit status
- return "$(grep -c ERROR .nextflow.log)"
-}
+export PATH=$PATH:$PWD/scripts
+source scripts/test_config.sh
test_exit_status=0
nextflow clean -f
-for d in ./outputs/*
-do
- rm -r $d
-done
+rm -r ./outputs/* ./work/*
echo "Test case 1: simple trio"
-run_nextflow ../pipeline/validation.nf --ped_file assets/input_data/ped_files/batch_1.ped --sample_sheet assets/input_data/sample_sheets/batch_1.tsv
+run_nextflow ../pipeline/main.nf --ped_file assets/input_data/ped_files/batch_1.ped --sample_sheet assets/input_data/sample_sheets/batch_1.tsv
test_exit_status=$(( $test_exit_status + $? ))
+for f in "
+ outputs/individuals/000001/merged_fastqs/000001_merged_r1.fastq.gz
+ outputs/individuals/000001/merged_fastqs/000001_merged_r2.fastq.gz
+ outputs/individuals/000002/merged_fastqs/000002_merged_r1.fastq.gz
+ outputs/individuals/000002/merged_fastqs/000002_merged_r2.fastq.gz
+ outputs/individuals/000003/merged_fastqs/000003_merged_r1.fastq.gz
+ outputs/individuals/000003/merged_fastqs/000003_merged_r2.fastq.gz
+ outputs/families/000001/000001.csv
+"
+do
+ ls $f > /dev/null
+ test_exit_status=$(( $test_exit_status + $? ))
+done
echo "Test case 2: MD5 errors"
-run_nextflow ../pipeline/validation.nf --ped_file assets/input_data/ped_files/batch_2_md5_errors.ped --sample_sheet assets/input_data/sample_sheets/batch_2_md5_errors.tsv
+run_nextflow ../pipeline/main.nf --ped_file assets/input_data/ped_files/batch_2_md5_errors.ped --sample_sheet assets/input_data/sample_sheets/batch_2_md5_errors.tsv
if [ $? == 0 ]
then
test_exit_status=$(( $test_exit_status + 1 ))
diff --git a/tests/scripts/bcbio_nextgen.py b/tests/scripts/bcbio_nextgen.py
new file mode 100755
index 0000000000000000000000000000000000000000..c8da36adc591810f50d69215b14dba4443c63f7f
--- /dev/null
+++ b/tests/scripts/bcbio_nextgen.py
@@ -0,0 +1,4 @@
+#/usr/bin/env python
+"""
+Fake BCBio for testing with the empty datasets from tests/assets/
+"""
diff --git a/tests/scripts/test_config.sh b/tests/scripts/test_config.sh
new file mode 100644
index 0000000000000000000000000000000000000000..5ddda73556a1a299df097abb5b8cdc64d96f08c9
--- /dev/null
+++ b/tests/scripts/test_config.sh
@@ -0,0 +1,18 @@
+
+function run_nextflow {
+ # Run NextFlow in the background, wait for termination and return an exit status based on
+ # error occurrence. We have to do this because NextFlow doesn't like CI environments with
+ # detached stdin/stdout.
+
+ nextflow run -bg $*
+ nextflow_pid=$(cat .nextflow.pid)
+
+ while kill -0 $nextflow_pid 2> /dev/null
+ do
+ sleep 1
+ done
+ rm .nextflow.pid
+
+ # janky, but couldn't find any other way of getting the exit status
+ return "$(grep -c ERROR .nextflow.log)"
+}